Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.

ABSTRACT:

Objective

To describe the long-term follow-up and distinct phenotype of a large cohort of patients with Gaucher disease type 3 on enzyme replacement therapy (ERT) in Egypt.

Methods

A prospective cohort study of 78 patients on ERT who were followed for up to 9 years with yearly evaluations that included EEG and cognitive testing.

Results

Of the patients, 73% were homozygous for the L444P GBA1 mutation; all but 7 were neurologically symptomatic. Supranuclear gaze palsy with variable but stable cognitive function was present in 91% of patients. Convergent strabismus and bulbar dysfunction were noted in 22% and 37%, respectively. Features of oppositional defiant disorder were present in 54% of patients. Twenty-three patients (30%) developed seizures while on ERT for 1-9 y

SUBMITTER: Abdelwahab M 

PROVIDER: S-EPMC4830203 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature